화학공학소재연구정보센터
검색결과 : 13건
No. Article
1 A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)
Collins RL, Brand H, Karczewski KJ, Zhao XF, Alfldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang HR, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, Gauthier LD, Talkowski ME
Nature, 590(7846), E55, 2021
2 The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Aggregation G, Neale BM, Daly MJ, MacArthur DG
Nature, 590(7846), E53, 2021
3 The mutational constraint spectrum quantified from variation in 141,456 humans
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alfoldi J, Wang QB, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Neale BM, Daly MJ, MacArthur DG
Nature, 581(7809), 434, 2020
4 A structural variation reference for medical and population genetics
Collins RL, Brand H, Karczewski KJ, Zhao X, Alfoldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang YQ, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L, Taylor KD, Lin HJ, Rich SS, Post WS, Chen YDI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME
Nature, 581(7809), 444, 2020
5 Analysis of protein-coding genetic variation in 60,706 humans
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao FM, Zou J, Pierce-Hollman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozeo L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu DM, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, NcCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG
Nature, 536(7616), 285, 2016
6 The genetic architecture of type 2 diabetes
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Muller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen YH, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancakova A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu YC, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njolstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jorgensen ME, Jorgensen T, Ladenvall C, Justesen JM, Karajamaki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi QB, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang LM, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvanen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia WP, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Magi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI
Nature, 536(7614), 41, 2016
7 A global reference for human genetic variation
Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C, Lehrach H, Mardis ER, Marth GT, McVean GA, Nickerson DA, Schmidt JP, Sherry ST, Wang J, Wilson RK, Gibbs RA, Boerwinkle E, Doddapaneni H, Han Y, Korchina V, Kovar C, Lee S, Muzny D, Reid JG, Zhu YM, Wang J, Chang YQ, Feng Q, Fang XD, Guo XS, Jian M, Jiang H, Jin X, Lan TM, Li GQ, Li JX, Li YR, Liu SM, Liu X, Lu Y, Ma XD, Tang MF, Wang B, Wang GB, Wu HL, Wu RH, Xu X, Yin Y, Zhang DD, Zhang WW, Zhao J, Zhao MR, Zheng XL, Lander ES, Altshuler DM, Gabriel SB, Gupta N, Gharani N, Toji LH, Gerry NP, Resch AM, Flicek P, Barker J, Clarke L, Gil L, Hunt SE, Kelman G, Kulesha E, Leinonen R, McLaren WM, Radhakrishnan R, Roa A, Smirnov D, Smith RE, Streeter I, Thormann A, Toneva I, Vaughan B, Zheng-Bradley X, Bentley DR, Grocock R, Humphray S, James T, Kingsbury Z, Lehrach H, Sudbrak R, Albrecht MW, Amstislavskiy VS, Borodina TA, Lienhard M, Mertes F, Sultan M, Timmermann B, Yaspo ML, Mardis ER, Wilson RK, Fulton L, Fulton R, Sherry ST, Ananiev V, Belaia Z, Beloslyudtsev D, Bouk N, Chen C, Church D, Cohen R, Cook C, Garner J, Hefferon T, Kimelman M, Liu CL, Lopez J, Meric P, O'Sullivan C, Ostapchuk Y, Phan L, Ponomarov S, Schneider V, Shekhtman E, Sirotkin K, Slotta D, Zhang H, McVean GA, Durbin RM, Balasubramaniam S, Burton J, Danecek P, Keane TM, Kolb-Kokocinski A, McCarthy S, Stalker J, Quail M, Schmidt JP, Davies CJ, Gollub J, Webster T, Wong B, Zhan YP, Auton A, Campbell CL, Kong Y, Marcketta A, Gibbs RA, Yu FL, Antunes L, Bainbridge M, Muzny D, Sabo A, Huang ZY, Wang J, Coin LJM, Fang L, Guo XS, Jin X, Li GQ, Li QB, Li YR, Li ZY, Lin HX, Liu BH, Luo RB, Shao HJ, Xie YL, Ye C, Yu C, Zhang F, Zheng HC, Zhu HM, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Leong WF, Stromberg M, Ward AN, Wu JT, Zhang MY, Daly MJ, DePristo MA, Handsaker RE, Altshuler DM, Banks E, Bhatia G, del Angel G, Gabriel SB, Genovese G, Gupta N, Li H, Kashin S, Lander ES, McCarroll SA, Nemesh JC, Poplin RE, Yoon SC, Lihm J, Makarov V, Clark AG, Gottipati S, Keinan A, Rodriguez-Flores JL, Korbel JO, Rausch T, Fritz MH, Stuetz AM, Flicek P, Beal K, Clarke L, Datta A, Herrero J, McLaren WM, Ritchie GRS, Smith RE, Zerbino D, Zheng-Bradley X, Sabeti PC, Shlyakhter I, Schaffner SF, Vitti J, Cooper DN, Ball EV, Stenson PD, Bentley DR, Barnes B, Bauer M, Cheetham RK, Cox A, Eberle M, Humphray S, Kahn S, Murray L, Peden J, Shaw R, Kenny EE, Batzer MA, Konkel MK, Walker JA, MacArthur DG, Lek M, Sudbrak R, Amstislavskiy VS, Herwig R, Mardis ER, Ding L, Koboldt DC, Larson D, Ye K, Gravel S, Swaroop A, Chew E, Lappalainen T, Erlich Y, Gymrek M, Willems TF, Simpson JT, Shriver MD, Rosenfeld JA, Bustamante CD, Montgomery SB, De La Vega FM, Byrnes JK, Carroll AW, DeGorter MK, Lacroute P, Maples BK, Martin AR, Moreno-Estrada A, Shringarpure SS, Zakharia F, Halperin E, Baran Y, Lee C, Cerveira E, Hwang J, Malhotra A, Plewczynski D, Radew K, Romanovitch M, Zhang CS, Hyland FCL, Craig DW, Christoforides A, Homer N, Izatt T, Kurdoglu AA, Sinari SA, Squire K, Sherry ST, Xiao CL, Sebat J, Antaki D, Gujral M, Noor A, Ye K, Burchard EG, Hernandez RD, Gignoux CR, Haussler D, Katzman SJ, Kent WJ, Howie B, Ruiz-Linares A, Dermitzakis ET, Devine SE, Goncalo RA, Kang HM, Kidd JM, Blackwell T, Caron S, Chen W, Emery S, Fritsche L, Fuchsberger C, Jun G, Li BS, Lyons R, Scheller C, Sidore C, Song SY, Sliwerska E, Taliun D, Tan A, Welch R, Wing MK, Zhan XW, Awadalla P, Hodgkinson A, Li Y, Shi XH, Quitadamo A, Lunter G, McVean GA, Marchini JL, Myers S, Churchhouse C, Delaneau O, Gupta-Hinch A, Kretzschmar W, Iqbal Z, Mathieson I, Menelaou A, Rimmer A, Xifara DK, Oleksyk TK, Fu YX, Liu XM, Xiong MM, Jorde L, Witherspoon D, Xing JC, Eichler EE, Browning BL, Browning SR, Hormozdiari F, Sudmant PH, Khurana E, Durbin RM, Hurles ME, Tyler-Smith C, Albers CA, Ayub Q, Balasubramaniam S, Chen Y, Colonna V, Danecek P, Jostins L, Keane TM, McCarthy S, Walter K, Xue YL, Gerstein MB, Abyzov A, Balasubramanian S, Chen JM, Clarke D, Fu Y, Harmanci AO, Jin M, Lee D, Liu J, Mu XJ, Zhang J, Zhang Y, Li YR, Luo RB, Zhu HM, Alkan C, Dal E, Kahveci F, Marth GT, Garrison EP, Kural D, Lee WP, Ward AN, Wu JT, Zhang MY, McCarroll SA, Handsaker RE, Altshuler DM, Banks E, Del Angel G, Genovese G, Hartl C, Li H, Kashin S, Nemesh JC, Shakir K, Yoon SC, Lihm J, Makarov V, Degenhardt J, Korbel JO, Fritz MH, Meiers S, Raeder B, Rausch T, Stuetz AM, Flicek P, Casale FP, Clarke L, Smith RE, Stegle O, Zheng-Bradley X, Bentley DR, Barnes B, Cheetham RK, Eberle M, Humphray S, Kahn S, Murray L, Shaw R, Lameijer EW, Batzer MA, Konkel MK, Walker JA, Ding L, Hall I, Ye K, Lacroute P, Lee C, Cerveira E, Malhotra A, Hwang J, Plewczynski D, Radew K, Romanovitch M, Zhang CS, Craig DW, Homer N, Church D, Xiao CL, Sebat J, Antaki D, Bafna V, Michaelson J, Ye K, Devine SE, Gardner EJ, Abecasis GR, Kidd JM, Mills RE, Dayama G, Emery S, Jun G, Shi XH, Quitadamo A, Lunter G, McVean GA, Chen K, Fan X, Chong ZC, Chen TH, Witherspoon D, Xing JC, Eichler EE, Chaisson MJ, Hormozdiari F, Huddleston J, Malig M, Nelson BJ, Sudmant PH, Parrish NF, Khurana E, Hurles ME, Ben Blackburne, Lindsay SJ, Ning ZM, Walter K, Zhang YJ, Gerstein MB, Abyzov A, Chen JM, Clarke D, Lam H, Mu XJ, Sisu C, Zhang J, Zhang Y, Gibbs RA, Yu FL, Bainbridge M, Challis D, Evani US, Kovar C, Lu J, Muzny D, Nagaswamy U, Reid JG, Sabo A, Yu J, Guo XS, Li WS, Li YR, Wu RH, Marth GT, Garrison EP, Leong WF, Ward AN, del Angel G, DePristo MA, Gabriel SB, Gupta N, Hartl C, Poplin RE, Clark AG, Rodriguez-Flores JL, Flicek P, Clarke L, Smith RE, Zheng-Bradley X, MacArthur DG, Mardis ER, Fulton R, Koboldt DC, Gravel S, Bustamante CD, Craig DW, Christoforides A, Homer N, Izatt T, Sherry ST, Xiao CL, Dermitzakis ET, Abecasis GR, Kang HM, McVean GA, Gerstein MB, Balasubramanian S, Habegger L, Yu HY, Flicek P, Clarke L, Cunningham F, Dunham I, Zerbino D, Zheng-Bradley X, Lage K, Jespersen JB, Horn H, Montgomery SB, DeGorter MK, Khurana E, Tyler-Smith C, Chen Y, Colonna V, Xue YL, Gerstein MB, Balasubramanian S, Fu Y, Kim D, Auton A, Marcketta A, Desalle R, Narechania A, Sayres MAW, Garrison EP, Handsaker RE, Kashin S, McCarroll SA, Rodriguez-Flores JL, Flicek P, Clarke L, Zheng-Bradley X, Erlich Y, Gymrek M, Willems TF, Bustamante CD, Mendez FL, Poznik GD, Underhill PA, Lee C, Cerveira E, Malhotra A, Romanovitch M, Zhang CS, Abecasis GR, Coin L, Shao HJ, Mittelman D, Tyler-Smith C, Ayub Q, Banerjee R, Cerezo M, Chen Y, Fitzgerald T, Louzada S, Massaia A, McCarthy S, Ritchie GR, Xue YL, Yang FT, Gibbs RA, Kovar C, Kalra D, Hale W, Muzny D, Reid JG, Wang J, Dan X, Guo XS, Li GQ, Li YR, Ye C, Zheng XL, Altshuler DM, Flicek P, Clarke L, Zheng-Bradley X, Bentley DR, Cox A, Humphray S, Kahn S, Sudbrak R, Albrecht MW, Lienhard M, Larson D, Craig DW, Izatt T, Kurdoglu AA, Sherry ST, Xiao CL, Haussler D, Abecasis GR, McVean GA, Durbin RM, Balasubramaniam S, Keane TM, McCarthy S, Stalker J, Chakravarti A, Knoppers BM, Abecasis GR, Barnes KC, Beiswanger C, Burchard EG, Bustamante CD, Cai HY, Cao HZ, Durbin RM, Gerry NP, Gharani N, Gibbs RA, Gignoux CR, Gravel S, Henn B, Jones D, Jorde L, Kaye JS, Keinan A, Kent A, Kerasidou A, Li YR, Mathias R, McVean GA, Moreno-Estrada A, Ossorio PN, Parker M, Resch AM, Rotimi CN, Royal CD, Sandoval K, Su YY, Sudbrak R, Tian ZM, Tishkoff S, Toji LH, Tyler-Smith C, Via M, Wang YH, Yang HM, Yang L, Zhu JY, Bodmer W, Bedoya G, Ruiz-Linares A, Cai ZM, Gao Y, Chu JY, Peltonen L, Garcia-Montero A, Orfao A, Dutil J, Martinez-Cruzado JC, Oleksyk TK, Barnes KC, Mathias RA, Hennis A, Watson H, McKenzie C, Qadri F, LaRocque R, Sabeti PC, Zhu JY, Deng XY, Sabeti PC, Asogun D, Folarin O, Happi C, Omoniwa O, Stremlau M, Tariyal R, Jallow M, Joof FS, Corrah T, Rockett K, Kwiatkowski D, Kooner J, Hien TT, Dunstan SJ, Hang NT, Fonnie R, Garry R, Kanneh L, Moses L, Sabeti PC, Schieffelin J, Grant DS, Gallo C, Poletti G, Saleheen D, Rasheed A, Brook LD, Felsenfeld A, McEwen JE, Vaydylevich Y, Green ED, Duncanson A, Dunn M, Schloss JA, Wang J, Yang HM, Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR
Nature, 526(7571), 68, 2015
8 Effect of predicted protein-truncating genetic variants on the human transcriptome
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao FM, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J, Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG
Science, 348(6235), 666, 2015
9 De novo mutations in schizophrenia implicate synaptic networks
Fromer M, Pocklington AJ, Kavanagh DH, Williams HJ, Dwyer S, Gormley P, Georgieva L, Rees E, Palta P, Ruderfer DM, Carrera N, Humphreys I, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Grant SG, Hannon E, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Kirov G, Palotie A, McCarroll SA, Holmans P, Sklar P, Owen MJ, Purcell SM, O'Donovan MC
Nature, 506(7487), 179, 2014
10 A polygenic burden of rare disruptive mutations in schizophrenia
Purcell SM, Moran JL, Fromer M, Ruderfer D, Solovieff N, Roussos P, O'Dushlaine C, Chambert K, Bergen SE, Kahler A, Duncan L, Stahl E, Genovese G, Fernandez E, Collins MO, Komiyama NH, Choudhary JS, Magnusson PKE, Banks E, Shakir K, Garimella K, Fennell T, DePristo M, Grant SGN, Haggarty SJ, Gabriel S, Scolnick EM, Lander ES, Hultman CM, Sullivan PF, McCarroll SA, Sklar P
Nature, 506(7487), 185, 2014